Canonical Allele Identifier: CA2466663775

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379600_154379603delinsCCCT , CM000685.2:g.154379600_154379603delinsCCCT	GRCh38
NC_000023.10:g.153607960_153607963delinsCCCT , CM000685.1:g.153607960_153607963delinsCCCT	GRCh37
NC_000023.9:g.153261154_153261157delinsCCCT	NCBI36
NG_008677.1:g.10165_10168delinsCCCT , LRG_745:g.10165_10168delinsCCCT
NG_011506.1:g.44_47delinsAGGG
NG_011506.2:g.36_39delinsAGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.82+34_82+37delinsCCCT	ENSP00000507245.1:n.82+34_82+37delinsCCCT...
ENST00000682478.1:n.58+34_58+37delinsCCCT
ENST00000683576.1:n.58+34_58+37delinsCCCT
ENST00000683627.1:c.82+34_82+37delinsCCCT	ENSP00000507533.1:n.82+34_82+37delinsCCCT...
ENST00000684082.1:c.82+34_82+37delinsCCCT	ENSP00000508266.1:n.82+34_82+37delinsCCCT...
ENST00000684633.1:n.54+38_54+41delinsCCCT
ENST00000684678.1:c.78+38_78+41delinsCCCT	ENSP00000507059.1:n.78+38_78+41delinsCCCT...
ENST00000369842.9:c.82+34_82+37delinsCCCT MANE Select	ENSP00000358857.4:n.82+34_82+37delinsCCCT...
ENST00000369835.3:c.82+34_82+37delinsCCCT	ENSP00000358850.3:n.82+34_82+37delinsCCCT...
ENST00000369842.8:c.82+34_82+37delinsCCCT	ENSP00000358857.4:n.82+34_82+37delinsCCCT...
ENST00000428228.5:c.53+63_53+66delinsCCCT	ENSP00000401081.1:n.53+63_53+66delinsCCCT...
ENST00000468294.5:n.42+34_42+37delinsCCCT
ENST00000485261.1:n.163+34_163+37delinsCCCT
ENST00000486738.5:n.226+34_226+37delinsCCCT
ENST00000494443.5:n.139+34_139+37delinsCCCT
NM_000117.2:c.82+34_82+37delinsCCCT , LRG_745t1:c.82+34_82+37delinsCCCT	NP_000108.1:n.82+34_82+37delinsCCCT
XM_024452349.1:c.-127+34_-127+37delinsCCCT	XP_024308117.1:n.-127+34_-127+37delinsCCC...
NM_000117.3:c.82+34_82+37delinsCCCT MANE Select	NP_000108.1:n.82+34_82+37delinsCCCT